Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values RERE 473 broad.mit.edu 37 1 8424241 8424242 + Frame_Shift_Ins INS - - T TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr1:8424241_8424242insT uc001ape.3 - 15 2424_2425 c.1614_1615insA c.(1612-1617)aaatacfs p.K538fs RERE_uc001apf.3_Frame_Shift_Ins_p.K538fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.K270fs|RERE_uc001apd.3_5'UTR NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 538 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AGCTCACCGTATTTCTTGAAGT 0.569 MSH4 4438 broad.mit.edu 37 1 76288094 76288094 + Silent SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr1:76288094G>A uc001dhd.2 + 7 1105 c.990_splice c.e7-1 p.R330_splice NM_002440 NP_002431 O15457 MSH4_HUMAN Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA. 330 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 GTTTTGAAAGGAATAATCACA 0.308 Mismatch excision repair (MMR) RPL5 6125 broad.mit.edu 37 1 93303161 93303161 + Missense_Mutation SNP T T C TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr1:93303161T>C uc001doz.3 + 5 754 c.676T>C c.(676-678)Tac>Cac p.Y226H FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.Y176H|RPL5_uc001dpd.3_Missense_Mutation_p.Y27H|SNORA66_uc021opt.1_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN Homo sapiens ribosomal protein L5 (RPL5), mRNA. 226 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) GTTCTCTCAATACATAAAGAA 0.368 SCYL3 57147 broad.mit.edu 37 1 169833511 169833511 + Frame_Shift_Del DEL T T - TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr1:169833511delT uc001ggs.2 - 9 1153 c.955_splice c.e9+1 p.D319_splice SCYL3_uc010plw.1_Splice_Site|SCYL3_uc001ggt.2_Splice_Site_p.D319_splice NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA. 319 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCATTCACCTTTTTTGGGGC 0.393 RAG2 5897 broad.mit.edu 37 11 36615451 36615451 + Missense_Mutation SNP G G C rs149769148 TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr11:36615451G>C uc021qge.1 - 0 268 c.268C>G c.(268-270)Caa>Gaa p.Q90E RAG2_uc021qgc.1_Missense_Mutation_p.Q90E|RAG2_uc021qgd.1_Missense_Mutation_p.Q90E|RAG2_uc001mwv.4_Missense_Mutation_p.Q90E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank NM_001243786 NP_001230715 P55895 RAG2_HUMAN Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA. 90 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) ATGATGTATTGATGCTTTTCA 0.413 Familial Hemophagocytic Lymphohistiocytosis KDELC2 143888 broad.mit.edu 37 11 108361783 108361783 + Missense_Mutation SNP C C T TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr11:108361783C>T uc001pkj.2 - 1 380 c.314G>A c.(313-315)aGg>aAg p.R105K KDELC2_uc001pki.2_Missense_Mutation_p.R49K NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA. 105 endoplasmic reticulum lumen breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TTCATACATCCTATATCTCAT 0.388 ESAM 90952 broad.mit.edu 37 11 124623728 124623728 + Silent SNP A A C TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr11:124623728A>C uc001qav.4 - 6 1160 c.987T>G c.(985-987)ggT>ggG p.G329G VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Silent_p.G256G|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript NM_138961 NP_620411 Q96AP7 ESAM_HUMAN Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA. 329 blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) GGGTCAATGCACCAGGCCTGG 0.647 ANKRD33 341405 broad.mit.edu 37 12 52284586 52284586 + Missense_Mutation SNP C C T TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr12:52284586C>T uc001rzd.3 + 4 1034 c.856C>T c.(856-858)Cgg>Tgg p.R286W ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.R161W|ANKRD33_uc001rze.3_Missense_Mutation_p.R182W|ANKRD33_uc001rzg.4_Missense_Mutation_p.R88W|ANKRD33_uc001rzi.4_Missense_Mutation_p.R161W NM_182608 NP_872414 Q7Z3H0 ANR33_HUMAN Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA. 161 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) ACTCCTAGAACGGCTGCAGGC 0.662 FOXG1 2290 broad.mit.edu 37 14 29236624 29236626 + In_Frame_Del DEL CAC CAC - TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr14:29236624_29236626delCAC uc001wqe.3 + 0 338_340 c.139_141delCAC c.(139-141)cacdel p.H57del NM_005249 NP_005240 P55316 FOXG1_HUMAN Homo sapiens forkhead box G1 (FOXG1), mRNA. 57 His-rich. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) ccacccccagcaccaccaccacc 0.744 IGDCC3 9543 broad.mit.edu 37 15 65621380 65621380 + Missense_Mutation SNP T T A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr15:65621380T>A uc002aos.2 - 13 2564 c.2312A>T c.(2311-2313)gAg>gTg p.E771V IGDCC3_uc002aor.1_Missense_Mutation_p.E57V NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA. 771 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGCCGTGGCCTCTGTGGTCTT 0.716 RBBP6 5930 broad.mit.edu 37 16 24581255 24581256 + Frame_Shift_Ins INS - - A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr16:24581255_24581256insA uc002dmh.3 + 16 4284_4285 c.3244_3245insA c.(3244-3246)gaafs p.E1082fs RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E949fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.E1048fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.E915fs NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 1082 Interaction with RB1 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TCAGAAGGATGAAAAAATCACT 0.406 CES3 23491 broad.mit.edu 37 16 66997813 66997813 + Missense_Mutation SNP C C T rs148620443 byFrequency TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr16:66997813C>T uc002eqt.3 + 3 614 c.535C>T c.(535-537)Cgc>Tgc p.R179C CES3_uc010cdz.3_Missense_Mutation_p.R179C NM_024922 NP_079198 Q6UWW8 EST3_HUMAN Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA. 179 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) AGTCCAGTACCGCCTTGGGGT 0.607 SSTR2 6752 broad.mit.edu 37 17 71166297 71166297 + Missense_Mutation SNP T T C TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr17:71166297T>C uc002jje.3 + 1 1199 c.839T>C c.(838-840)gTc>gCc p.V280A SSTR2_uc021ucm.1_Missense_Mutation_p.V280A NM_001050 NP_001041 P30874 SSR2_HUMAN Homo sapiens somatostatin receptor 2 (SSTR2), mRNA. 280 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity p.V280I(1) endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) GTTTCTTCCGTCTCCATGGCC 0.512 CDH19 28513 broad.mit.edu 37 18 64178924 64178925 + Splice_Site INS - - A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr18:64178924_64178925insA uc002lkc.1 - 10 1597 c.1459_splice c.e10-1 p.V487_splice CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Intron NM_021153 NP_066976 Q9H159 CAD19_HUMAN Homo sapiens cadherin 19, type 2 (CDH19), mRNA. 487 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CTGAATTACCTAAAAAAAAAGG 0.317 ZNF516 9658 broad.mit.edu 37 18 74091275 74091275 + Missense_Mutation SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr18:74091275G>A uc021ulp.1 - 3 3113 c.2795C>T c.(2794-2796)aCg>aTg p.T932M ZNF516_uc002lmd.3_Non-coding_Transcript NM_014643 NP_055458 Q92618 ZN516_HUMAN Homo sapiens zinc finger protein 516 (ZNF516), mRNA. 932 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T932M(2) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GACGGTGGGCGTAGGGGTGGC 0.726 ZNF135 7694 broad.mit.edu 37 19 58578313 58578313 + Missense_Mutation SNP C C T TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr19:58578313C>T uc002qrg.3 + 3 536 c.533C>T c.(532-534)aCg>aTg p.T178M ZNF135_uc002qre.3_Missense_Mutation_p.T154M|ZNF135_uc002qrf.3_Missense_Mutation_p.T112M|ZNF135_uc010yhq.2_Missense_Mutation_p.T166M|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Missense_Mutation_p.T166M|ZNF135_uc021vcu.1_Intron NM_007134 NP_009065 B4DHH9 B4DHH9_HUMAN Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA. 166 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.T178K(1)|p.T154K(1) breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CCTGTGAAGACGCCTGTTCTG 0.557 GALNT14 79623 broad.mit.edu 37 2 31360949 31360949 + Missense_Mutation SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr2:31360949G>A uc002rns.3 - 0 644 c.4C>T c.(4-6)Cgg>Tgg p.R2W GALNT14_uc010ymr.2_5'UTR|GALNT14_uc002rnr.3_Missense_Mutation_p.R2W|GALNT14_uc010ezo.2_Missense_Mutation_p.R2W|GALNT14_uc010ezp.1_Intron NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 2 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GTCAGGCGCCGCATGGTCCCC 0.682 RCAN2 51776 broad.mit.edu 37 2 174104210 174104210 + Missense_Mutation SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr2:174104210G>A uc002uhz.3 + 15 1545 c.1345G>A c.(1345-1347)Gga>Aga p.G449R MLK7-AS1_uc002uib.3_Intron NM_016653 NP_057737 Q14206 RCAN2_HUMAN Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA. 0 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 CTTGAAACCAGGAACTGGCCC 0.398 SEMG2 6407 broad.mit.edu 37 20 43851147 43851147 + Missense_Mutation SNP C C T rs140069155 TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr20:43851147C>T uc010ggz.3 + 1 931 c.874C>T c.(874-876)Cgt>Tgt p.R292C SEMG2_uc002xnk.3_Missense_Mutation_p.R292C|SEMG2_uc002xnl.3_Missense_Mutation_p.R292C NM_003008 NP_002999 Q02383 SEMG2_HUMAN Homo sapiens semenogelin II (SEMG2), mRNA. 292 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity p.R292S(2)|p.S291P(1)|p.R292H(1)|p.R292L(1) autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) CCCGTCTTCACGTACAGAAGA 0.393 LMCD1 29995 broad.mit.edu 37 3 8574487 8574487 + Missense_Mutation SNP C C T TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr3:8574487C>T uc003bqq.3 + 1 221 c.107C>T c.(106-108)tCg>tTg p.S36L LMCD1_uc011atd.2_Intron|LMCD1_uc011ate.2_Silent_p.F9F NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA. 36 Cys-rich. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) GGGACGTGTTCGGGCTTCGAG 0.537 TLR9 54106 broad.mit.edu 37 3 52257538 52257538 + Missense_Mutation SNP C C A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr3:52257538C>A uc003ddb.3 - 4 1295 c.1085G>T c.(1084-1086)tGc>tTc p.C362F TLR9_uc003dda.2_Missense_Mutation_p.C265F NM_017442 NP_059138 Q9NR96 TLR9_HUMAN Homo sapiens toll-like receptor 9 (TLR9), mRNA. 265 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GCACTCCATGCAGGGGTTGGG 0.617 U2SURP 23350 broad.mit.edu 37 3 142773820 142773820 + Missense_Mutation SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr3:142773820G>A uc003evh.1 + 26 2909 c.2810G>A c.(2809-2811)cGc>cAc p.R937H U2SURP_uc003evi.1_Missense_Mutation_p.R528H|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.R936H NM_001080415 NP_001073884 O15042 SR140_HUMAN Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA. 937 Arg/Ser-rich. RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 AGCCCATCTCGCAGTAGCAGT 0.478 PIK3CA 5290 broad.mit.edu 37 3 178921548 178921548 + Missense_Mutation SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr3:178921548G>A uc003fjk.3 + 4 1187 c.1030G>A c.(1030-1032)Gtg>Atg p.V344M NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 344 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.V344M(9)|p.V344G(5)|p.V344A(3)|p.Y343C(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGCAACCTACGTGAATGTAAA 0.308 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) PIK3R1 5295 broad.mit.edu 37 5 67591152 67591152 + Frame_Shift_Del DEL T T - TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr5:67591152delT uc003jva.3 + 13 2325 c.1745_splice c.e13+1 p.M582_splice PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 582 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAATACTTGATGTAAGTATTT 0.373 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) AFF4 27125 broad.mit.edu 37 5 132227876 132227877 + Frame_Shift_Ins INS - - G TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr5:132227876_132227877insG uc003kyd.3 - 12 3024_3025 c.2616_2617insC c.(2614-2619)tccagtfs p.S872fs AFF4_uc011cxk.2_Frame_Shift_Ins_p.S550fs|AFF4_uc003kye.1_Frame_Shift_Ins_p.S872fs NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA. 872 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGGAGCTACTGGAAGTCTTCC 0.470 PCDHAC2 56142 broad.mit.edu 37 5 140209539 140209539 + Silent SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr5:140209539G>A uc003lho.2 + 0 1890 c.1863G>A c.(1861-1863)ccG>ccA p.P621P PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.P621P NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 632 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGCTTCCCGTTTCGCGTGG 0.657 SH3RF2 153769 broad.mit.edu 37 5 145439569 145439569 + Missense_Mutation SNP G G A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr5:145439569G>A uc003lnt.3 + 8 1934 c.1696G>A c.(1696-1698)Gtg>Atg p.V566M SH3RF2_uc011dbl.1_Missense_Mutation_p.V566M|SH3RF2_uc011dbm.1_Missense_Mutation_p.V51M|SH3RF2_uc003lnu.3_Missense_Mutation_p.V57M|SH3RF2_uc011dbn.1_Missense_Mutation_p.V57M|SH3RF2_uc011dbo.2_Missense_Mutation_p.V23M NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 566 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCTCAGCCGTGGTGGTGGA 0.672 RIMS1 22999 broad.mit.edu 37 6 72957754 72957754 + Missense_Mutation SNP C C A TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr6:72957754C>A uc003pga.3 + 11 2242 c.2165C>A c.(2164-2166)cCt>cAt p.P722H RIMS1_uc011dyb.2_Missense_Mutation_p.P348H|RIMS1_uc003pgc.3_Missense_Mutation_p.P348H|RIMS1_uc010kaq.3_Missense_Mutation_p.P196H|RIMS1_uc011dyc.2_Missense_Mutation_p.P196H|RIMS1_uc010kar.3_Missense_Mutation_p.P115H|RIMS1_uc011dyd.2_Missense_Mutation_p.P181H|RIMS1_uc003pge.3_5'Flank|RIMS1_uc003pgf.3_5'Flank|RIMS1_uc003pgi.3_5'Flank|RIMS1_uc003pgg.3_5'Flank|RIMS1_uc003pgh.3_5'Flank|RIMS1_uc003pgd.3_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.P348H|RIMS1_uc010kas.1_Missense_Mutation_p.P181H NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 722 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) ATGGAAAGGCCTTCCATTTCT 0.333 DENND2A 27147 broad.mit.edu 37 7 140301861 140301861 + Missense_Mutation SNP C C T TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr7:140301861C>T uc010lnk.3 - 2 857 c.337G>A c.(337-339)Gga>Aga p.G113R DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G113R|DENND2A_uc003vvw.3_Missense_Mutation_p.G113R|DENND2A_uc003vvx.3_Missense_Mutation_p.G113R NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 113 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TTCACTGCTCCTTTATTCCTC 0.587 OR13C5 138799 broad.mit.edu 37 9 107361451 107361452 + Frame_Shift_Del DEL GC GC - TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chr9:107361451_107361452delGC uc011lvp.2 - 0 243_244 c.243_244delGC c.(241-246)acgctafs p.T81fs NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA. 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AAGCTCACTAGCGTGGAGGGAA 0.510 CXorf66 347487 broad.mit.edu 37 X 139038184 139038184 + Silent SNP T T C TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chrX:139038184T>C uc004fbb.3 - 2 979 c.957A>G c.(955-957)gcA>gcG p.A319A NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA. 319 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 GATCACCGTATGCATTGTTCC 0.383 UBE2NL 389898 broad.mit.edu 37 X 142967295 142967295 + Silent SNP C C T TCGA-19-5947-01A-11D-1696-08 TCGA-19-5947-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e7dd90-ead0-40fe-94c5-bc740cb509ab fa48fd89-0ab3-4670-9276-3257e1451d5d g.chrX:142967295C>T uc004fca.3 + 0 123 c.93C>T c.(91-93)aaC>aaT p.N31N NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA. 31 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) ATGAAAGCAACGCCCGTTATT 0.493